They are also gain-of-function
mutations, which activate the same transduction pathways as the c-kit.
Chronic mucocutaneous candidiasis caused by a gain-of-function
mutation in the STAT1 DNA-binding domain.
In this study, we applied both loss-of-function and gain-of-function
assays to prove the effects of NEAT1 on cellular processed in cervical cancer.
In addition, all major policy issues in the field over the past 3 decades, including bioterrorism, gain-of-function
influenza research, the antivaccine movement, and antimicrobial resistance, are covered in detail.
"Seipinopathies," a term created to refer to specific motor neuropathies, are dominant diseases caused by gain-of-function
mutations, mostly related to nervous tissue disorders: Silver syndrome (SS) and distal hereditary motor neuropathy (dHMN) .
Mutation in the signal transduction and activation of transcription 3 gene (STAT3) with gain-of-function
is the most prevalent mutation described and accounts for majority of its autosomal dominant and sporadic forms [1, 5, 7].
Eculizumab therapy in aHUS caused by a gain-of-function
pathogenic variant of complement factor B (CFB) is described .
A single abnormality within amplification of KMT2A is reported to have a gain-of-function
effect for leukemogenesis ; however, the exact role of this "partial" duplication of KMT2A in acute leukemia is still unclear.
Kwan et al., "York platelet syndrome is a CRAC channelopathy due to gain-of-function
mutations in STIM1," Molecular Genetics and Metabolism, vol.
"Results from (gain-of-function
) studies would almost certainly help in understanding the pandemic potential of influenza viruses and produce public health benefits, such as the prioritization and development of pre-pandemic vaccines and antiviral drugs," the authors write.
In contrast, gain-of-function
mutations cause neonatal diabetes by reducing the ability of AT P to inhibit channel activity (at Kir6.2) or enhancing the ability of Mg-nucleotides to stimulate channel activity (at SUR1) (4).
on the value of below reference serum IgE concentration in the diagnosis of hypermorphic or gain-of-function
(GoF)  signal transducer and activator of transcription 3 (STAT3) mutations (MIM: 615952) (1).